C5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 145371	GRCh38/hg38 9q33.2(chr9:120938029-121183321)x1	C5, C5-OT1 +9 more	Copy number loss	See cases	GUncertain significance
Select item 59124	GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1	C5, C5-OT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 1565464	NM_001735.3(C5):c.5031A>G (p.Ter1677=)	C5, C5-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	Complement component 5 deficiency +2 more	GLikely benign
Select item 1045011	NM_001735.3(C5):c.5024G>A (p.Gly1675Glu)	C5, C5-OT1 (G1675E +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1640950	NM_001735.3(C5):c.5017T>C (p.Leu1673=)	C5-OT1, C5	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1444040	NM_001735.3(C5):c.5011A>G (p.Ile1671Val)	C5, C5-OT1 (I1677V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Complement component 5 deficiency +3 more	GUncertain significance
Select item 1421436	NM_001735.3(C5):c.5005G>A (p.Glu1669Lys)	C5, C5-OT1 (E1675K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +3 more	GUncertain significance
Select item 2998264	NM_001735.3(C5):c.5004C>T (p.Ala1668=)	C5, C5-OT1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1917669	NM_001735.3(C5):c.4996G>A (p.Glu1666Lys)	C5, C5-OT1 (E1666K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1394084	NM_001735.3(C5):c.4985C>T (p.Ala1662Val)	C5, C5-OT1 (A1668V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1644150	NM_001735.3(C5):c.4968G>A (p.Ser1656=)	C5, C5-OT1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1432048	NM_001735.3(C5):c.4949G>A (p.Arg1650Lys)	C5, C5-OT1 (R1650K +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 1364468	NM_001735.3(C5):c.4932G>C (p.Trp1644Cys)	C5 (W1650C +1 more)	Single nucleotide variant (missense variant)	Eculizumab, poor response to +2 more	GUncertain significance
Select item 1376513	NM_001735.3(C5):c.4924T>G (p.Leu1642Val)	C5 (L1642V +1 more)	Single nucleotide variant (missense variant)	Eculizumab, poor response to +2 more	GUncertain significance
Select item 1635546	NM_001735.3(C5):c.4917A>G (p.Leu1639=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1923298	NM_001735.3(C5):c.4914T>C (p.Pro1638=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426109	NM_001735.3(C5):c.4912C>T (p.Pro1638Ser)	C5 (P1644S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1973743	NM_001735.3(C5):c.4902-5G>A	C5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2007968	NM_001735.3(C5):c.4902-12G>A	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960904	NM_001735.3(C5):c.4901+20C>T	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842625	NM_001735.3(C5):c.4901+19T>G	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990724	NM_001735.3(C5):c.4901+13T>C	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1966506	NM_001735.3(C5):c.4901+7C>A	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1588652	NM_001735.3(C5):c.4899C>T (p.Phe1633=)	C5	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 17052	NM_001735.3(C5):c.4872_4873delinsG (p.Leu1625fs)	C5 (L1631fs +1 more)	Indel (frameshift variant)	Complement component 5 deficiency	GPathogenic
Select item 1611073	NM_001735.3(C5):c.4830G>A (p.Glu1610=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620491	NM_001735.3(C5):c.4826C>A (p.Ala1609Asp)	C5 (A1609D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2179357	NM_001735.3(C5):c.4824C>A (p.Asn1608Lys)	C5 (N1608K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176711	NM_001735.3(C5):c.4824C>T (p.Asn1608=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 402450	NM_001735.3(C5):c.4806A>G (p.Lys1602=)	C5	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2005895	NM_001735.3(C5):c.4799T>C (p.Phe1600Ser)	C5 (F1600S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722488	NM_001735.3(C5):c.4785C>T (p.Asp1595=)	C5	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1929020	NM_001735.3(C5):c.4771G>A (p.Val1591Ile)	C5 (V1591I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2030208	NM_001735.3(C5):c.4763-5C>G	C5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1953598	NM_001735.3(C5):c.4763-10T>C	C5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1988016	NM_001735.3(C5):c.4763-11A>G	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1919045	NM_001735.3(C5):c.4763-12C>T	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2841003	NM_001735.3(C5):c.4763-13G>A	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957534	NM_001735.3(C5):c.4763-13G>C	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695996	NM_001735.3(C5):c.4762+19_4762+26del	C5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1651696	NM_001735.3(C5):c.4762+20T>C	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1556778	NM_001735.3(C5):c.4762+19A>T	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1898341	NM_001735.3(C5):c.4762+15G>A	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170723	NM_001735.3(C5):c.4762+14C>T	C5	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 3136031	NM_001735.3(C5):c.4745T>C (p.Leu1582Pro)	C5 (L1582P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2109036	NM_001735.3(C5):c.4714A>G (p.Asn1572Asp)	C5 (N1572D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1363788	NM_001735.3(C5):c.4713A>G (p.Glu1571=)	C5	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2613724	NM_001735.3(C5):c.4711G>A (p.Glu1571Lys)	C5 (E1571K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2971588	NM_001735.3(C5):c.4710A>G (p.Val1570=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1578002	NM_001735.3(C5):c.4707T>G (p.Thr1569=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905590	NM_001735.3(C5):c.4705A>G (p.Thr1569Ala)	C5 (T1569A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1510477	NM_001735.3(C5):c.4697C>T (p.Thr1566Ile)	C5 (T1566I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358924	NM_001735.3(C5):c.4693A>G (p.Ile1565Val)	C5 (I1571V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2126439	NM_001735.3(C5):c.4691G>A (p.Ser1564Asn)	C5 (S1570N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962067	NM_001735.3(C5):c.4684A>G (p.Lys1562Glu)	C5 (K1562E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500220	NM_001735.3(C5):c.4679-2A>G	C5	Single nucleotide variant (splice acceptor variant)	Eculizumab, poor response to +2 more	GLikely pathogenic
Select item 1911714	NM_001735.3(C5):c.4678+20A>G	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2097156	NM_001735.3(C5):c.4678+17A>G	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2104865	NM_001735.3(C5):c.4678+13G>C	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1135941	NM_001735.3(C5):c.4678+13G>A	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1422371	NM_001735.3(C5):c.4676A>G (p.Tyr1559Cys)	C5 (Y1559C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2485469	NM_001735.3(C5):c.4673C>T (p.Ala1558Val)	C5 (A1558V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2002702	NM_001735.3(C5):c.4673C>A (p.Ala1558Glu)	C5 (A1564E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130713	NM_001735.3(C5):c.4668G>T (p.Glu1556Asp)	C5 (E1562D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1481608	NM_001735.3(C5):c.4667A>G (p.Glu1556Gly)	C5 (E1556G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758646	NM_001735.3(C5):c.4656A>G (p.Ala1552=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1342383	NM_001735.3(C5):c.4654G>A (p.Ala1552Thr)	C5 (A1552T +1 more)	Single nucleotide variant (missense variant)	Complement component 5 deficiency +1 more	GUncertain significance
Select item 1491296	NM_001735.3(C5):c.4652C>T (p.Thr1551Ile)	C5 (T1557I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2791245	NM_001735.3(C5):c.4641A>T (p.Thr1547=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719003	NM_001735.3(C5):c.4615T>C (p.Leu1539=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1367678	NM_001735.3(C5):c.4589C>G (p.Ala1530Gly)	C5 (A1536G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868860	NM_001735.3(C5):c.4589-18A>G	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1354458	NM_001735.3(C5):c.4588+6C>T	C5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1405160	NM_001735.3(C5):c.4586A>C (p.Glu1529Ala)	C5 (E1529A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1362218	NM_001735.3(C5):c.4582G>T (p.Val1528Leu)	C5 (V1528L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953649	NM_001735.3(C5):c.4575C>T (p.Cys1525=)	C5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2413553	NM_001735.3(C5):c.4572G>A (p.Ala1524=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1405954	NM_001735.3(C5):c.4570G>A (p.Ala1524Thr)	C5 (A1524T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1608362	NM_001735.3(C5):c.4569C>T (p.Ala1523=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1446320	NM_001735.3(C5):c.4568C>G (p.Ala1523Gly)	C5 (A1529G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2054688	NM_001735.3(C5):c.4559G>A (p.Cys1520Tyr)	C5 (C1520Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3136030	NM_001735.3(C5):c.4555G>C (p.Val1519Leu)	C5 (V1525L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1674799	NM_001735.3(C5):c.4554A>G (p.Lys1518=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1444152	NM_001735.3(C5):c.4538A>G (p.Asn1513Ser)	C5 (N1519S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968376	NM_001735.3(C5):c.4524T>C (p.Phe1508=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1594349	NM_001735.3(C5):c.4515T>C (p.Cys1505=)	C5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1581735	NM_001735.3(C5):c.4505-7G>A	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011386	NM_001735.3(C5):c.4505-12T>C	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986303	NM_001735.3(C5):c.4504+14T>C	C5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1435849	NM_001735.3(C5):c.4504+4A>G	C5	Single nucleotide variant (intron variant)	Eculizumab, poor response to +2 more	GUncertain significance
Select item 2743117	NM_001735.3(C5):c.4504+2T>A	C5	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic

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